Clinical findings of patients with hyperammonemia affected by urea cycle disorders with hepatic encephalopathy. Issue 8 (30th September 2022)

• Record Type: Journal Article
• Authors: Lopes, Franciele Fátima; Sitta, Angela; de Moura Coelho, Daniella; Ribas, Graziela Schmitt; Faverzani, Jéssica Lamberty; dos Reis, Bianca Gomes; Wajner, Moacir; Vargas, Carmen Regla
• Is Part Of: International journal of developmental neuroscience. Volume 82:Issue 8(2022)
• Page Start: 771
• Page End: 787
• Publication Date: 2022-09-30
• Subjects: hepatic encephalopathy -- hyperammonemia -- inborn errors of metabolism -- urea cycle disorders; Developmental neurobiology -- Periodicals; Neurology -- Periodicals; Neurologie du développement -- Périodiques; Developmental neurobiology; Periodicals; 612.8
• DOI: 10.1002/jdn.10229
• Languages: English
• ISSNs: 0736-5748

Abstract

Abstract: Urea cycle disorders (UCD) are a group of genetic diseases caused by deficiencies in the enzymes and transporters involved in the urea cycle. The impairment of the cycle results in ammonia accumulation, leading to neurological dysfunctions and poor outcomes to affected patients. The aim of this study is to investigate and describe UCD patients' principal clinical and biochemical presentations to support professionals on urgent diagnosis and quick management, aiming better outcomes for patients. We explored medical records of 30 patients diagnosed in a referral center from Brazil to delineate UCD clinical and biochemical profile. Patients demonstrated a range of signs and symptoms, such as altered levels of consciousness, acute encephalopathy, seizures, progressive loss of appetite, vomiting, coma, and respiratory distress, in most cases combined with high levels of ammonia, which is an immediate biomarker, leading to a UCD suspicion. The most prevalent UCD detected were ornithine transcarbamylase deficiency, followed by citrullinemia type 1, hyperargininemia, carbamoyl phosphate synthase 1 deficiency, and argininosuccinic aciduria. Clinical symptoms were highly severe, being the majority developmental and neurological disabilities, with 20% of death rate. Laboratory analysis revealed high levels of ammonia (mean ± SD : 860 ± 470 μmol/L; reference value: ≤80 μmol/L), hypoglycemia, metabolic acidosis, and high excretion of orotic acid in the urine (except in carbamoyl phosphate synthetase 1 [CPS1] deficiency). We emphasize the need of urgent identification of UCD clinical and biochemical conditions, and immediate measurement of ammonia, to enable the correct diagnosis and increase the chances of patients' survival, minimizing neurological and psychomotor damage caused by hepatic encephalopathy. Abstract : In urea cycle disorders (UCD) a disturbance in the urea cycle occurs, leading to accumulation of ammonia. Hyperammonemia leads patients to develop severe neurological damage. In the present study, we present the clinical and laboratory profile of 30 patients with UCD from Brazil, to help professionals in the rapid diagnosis and improve the prognosis of these patients.